Article
TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.
Gene - 30 Jan 2023
Al-Jamea Lamiaa H, Woodman Alexander, M Heiba Nihal, Elshazly Shereen A, Ben Khalaf Noureddine, Al-Yami Fatimah S, Bilal Waheed Khawaja, Al Mutair Abbas, Alsedi Ahmad, Quiambao Jenifer V, Alzahrani Faisal M, Albaqami Walaa F, Al Qahtani Faisal H, Mohammed Aljarah Nasser, Fathallah Dahmani M, Halim Deifalla Abdel
Abstract excerpt
Iron-refractory iron deficiency anemia (IRIDA) is considered an autosomal recessive iron deficiency anemia due to mutations in the transmembrane protease serine 6 (TMPRSS6) gene. Variations in iron parameters and a higher risk of iron deficiency have been linked to the TMPRSS6 mutations. Furthermore, human genome-wide association studies (GWAS) identified a common mutation (rs855791) linked to abnormal...
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